Communication of Genetic Risk Information to Daughters in Families with Fragile X Syndrome: The Parent’s Perspective

Parental approaches to communicating information about genetic disorders to their children may be an important determinant in how the children manage stress as well as their adjustment and adaptation to that information. We explored communication patterns through structured interviews with 46 parents of daughters who learned about their genetic risk status as minors. Three different levels of knowledge about fragile X syndrome were explored: 1) informing that it has been diagnosed in the family and is an inherited disorder, 2) informing about the possibility of a daughter being a carrier, and 3) if testing had been done, informing the daughter of her actual carrier status. Additionally, parental perceptions of their daughter’s understanding of the information were explored along with frequency of discussions. We found that communication about genetic risk was initiated by the parents. Five disclosure patterns were identified with variations in style, content, and frequency of communication related to the information that was being disclosed. Aspects of resilient communication were present for all levels of disclosure; however, as the information became more personally relevant for the daughter such as disclosure about the possibility of “being a carrier” for fragile X syndrome and there was uncertainty regarding potential outcomes, the conversations included fewer resilient characteristics. Uncertainty about what and how to present information may negatively affect a parent’s ability to include elements of resilient communication when disclosing genetic risk information.     

Effects of cognitive behavioural therapy and return-to-work intervention for patients on sick leave due to stress-related disorders: Results from a randomized trial

The aim of this study was to evaluate specific effects for patients with adjustment or exhaustion disorder, the Stress subgroup (n = 152), regarding symptom severity and sick leave after CBT, a return-to-work intervention (RTW-I), and a combination of them (COMBO), using data from a randomized trial. In the original study, primary care patients on sick leave (N = 211) were randomized to CBT (n = 64), RTW-I (n = 67), or COMBO (n = 80). Blinded Clinician Severity Rating (CSR) of symptoms and sick leave registry data were primary outcomes. Subgroup analyses showed that for the Stress subgroup, CBT led to greater reduction of symptoms than RTW-I posttreatment, but COMBO did not differ from CBT or RTW-I. Regarding sick leave, there was no difference between treatments in the Stress subgroup. An exploratory analysis of the treatment effects in a subgroup of patients with depression, anxiety or insomnia indicates that RTW-I reduced sick leave faster than CBT. We conclude that CBT may be promising as an effective treatment of stress and exhaustion disorder.     

Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome

Using a multi-group cross-sectional design, we explored self-concept related to parental role salience and enactment in 53 young women (14 to 24 years) with knowledge they were either carriers, non-carriers, or could be a carrier of fragile X syndrome (FXS). Parental role salience included the participants’ desire “to be a mother” and the importance they placed on this role. Enactment focused on the participants’ views regarding ways to become a mother (reproductive options), parenting a child affected by FXS, and the development of partner relationships (marriage). Participants completed the FXS Adolescent Interview and the FX-Visual Analog Scale. Participants’ knowledge of their genetic risk status appears to have influenced both salience and enactment of the parental role, and the effect varied based on carrier status. For many, knowledge of genetic risk appears to have led to reappraisal, redefinition, and re-engagement with the goal of becoming a parent. This process was prominent in those who were carriers and less so in those who were at-risk, and it did not typically occur in those who were non-carriers. Findings offer valuable insight into the impact of genetic risk information on developing perceptions of the parental role and offer new directions for genetic counseling with adolescents and young women with a family history of FXS.     

Framing experts' (dis)agreements about uncertain environmental events

Agreements and disagreements between expert statements influence lay people's beliefs. But few studies have examined what is perceived as a disagreement. We report six experiments where people rated agreement between pairs of probabilistic statements about environmental events, attributed to two different experts or to the same expert at two different points in time. The statements differed in frame, by focusing on complementary outcomes (45% probability that smog will have negative health effects vs. 55% probability that it will not have such effects), in probability level (45% vs. 55% probability of negative effects), or in both respects. Opposite frames strengthened disagreement when combined with different probability levels. Approximate probabilities can be “framed” in yet another way by indicating reference values they are “over” or “under”. Statements that use different directional verbal terms (over vs. under 50%) indicated greater disagreement than statements with the same directional term but different probability levels (over 50% vs. over 70%). Framing and directional terms similarly affected consistency judgments when both statements were issued by the same expert at different occasions. The effect of framing on perceived agreement was significant for medium (10 and 20 percentage points) differences between probabilities, whereas the effect of directional term was stable for numerical differences up to 40 percentage points. To emphasize agreement between different estimates, they should be framed in the same way. To accentuate disagreements or changes of opinion, opposite framings should be used.     

Mediators of Change in Cognitive Behavior Therapy for Clinical Burnout

Evidence supporting the effectiveness of cognitive behavior therapy (CBT) for stress-related illness is growing, but little is known about its mechanisms of change. The aim of this study was to investigate potential mediators of CBT for severe stress in form of clinical burnout, using an active psychological treatment as comparator. We used linear mixed models to analyze data from patients (N = 82) with clinical burnout who received either CBT or another psychological treatment in a randomized controlled trial. Potential mediators (i.e., sleep quality, behavioral activation, perceived competence, and therapeutic alliance) and outcome (i.e., symptoms of burnout) were assessed weekly during treatment. The results showed that the positive treatment effects on symptoms of burnout favoring CBT (estimated between-group d = 0.93) were mediated by improvements in sleep quality, ab = -0.017, 95% CI_asymmetric [-0.037, -0.002], and increase in perceived competence, ab = -0.037, 95% CI_asymmetric [-0.070, -0.010]. Behavioral activation, ab = -0.004 [-0.016, 0.007], and therapeutic alliance, ab = 0.002 [-0.006, 0.011], did not significantly mediate the difference in effects between the treatments. Improving sleep quality and increasing perceived competence may thus constitute important process goals in order to attain symptom reduction in CBT for clinical burnout.     

Genetic Risk Communication: Experiences of Adolescent Girls and Young Women from Families with Fragile X Syndrome

Little is known about how and what genetic risk information parents communicate to their children and even less is known about what children hear and remember. To address this void, we explored how genetic risk information was learned, what information was given and who primarily provided information to adolescent girls and young adult women in families with fragile X syndrome. We explored three levels of risk knowledge: learning that fragile X syndrome was an inherited disorder, that they could be a carrier, and for those who had been tested, actual carrier status. These data were collected as part of a study that also explored adolescent self concept and age preferences about when to inform about genetic risk. Those findings have been presented separately. The purpose of this paper is to present the communication data. Using a multi-group cross-sectional design this study focused on girls ages 14–25 years from families previously diagnosed with fragile X syndrome, 1) who knew they were carriers (n = 20), 2) noncarriers (n = 18), or 3) at-risk to be carriers (n = 15). For all three stages of information the majority of the study participants were informed by a family member. We identified three different communication styles: open, sought information, and indirect. The content of the remembered conversations varied based on the stage of genetic risk information being disclosed as well as the girls’ knowledge of her own carrier status. Girls who had been tested and knew their actual carrier status were more likely to report an open communication pattern than girls who knew only that they were at-risk.     

A libertarian critique of H. Tristram Engelhardt, Jr.'s The Foundations of Bioethics

Conclusion: Although Engelhardt's The Foundations of Bioethics is an impressive work, it is plagued by problems of justification, conceptual confusion, and inconsistencies....A libertarian theory can arrive at the same basic requirements of mutual respect, autonomy, nonuse of force, and tolerance for a wide range of diverse life styles without relying on a lowest-common-denominator principle and without depriving fetuses, infants, and the mentally retarded of their status as persons. This can be done by taking a deontological approach to libertarian theory that denies that all moral beliefs are worthy of respect. Some beliefs, such as Engelhardt's belief that fetuses, infants, and the mentally retarded are nonpersons, simply fall beneath the floor of acceptable moral alternatives, even in a libertarian society, because such beliefs are based on a misunderstanding of personhood and violate the principle of mutual respect.